RT Journal Article
SR Electronic
T1 Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 383
OP 386
DO 10.1136/jmg.25.6.383
VO 25
IS 6
A1 Zonana, J
A1 Roberts, S H
A1 Thomas, N S
A1 Harper, P S
YR 1988
UL http://jmg.bmj.com/content/25/6/383.abstract
AB We have restudied a fibroblast cell line from a female with marked manifestations of X linked hypohidrotic ectodermal dysplasia (HED) and a balanced X;9 translocation. Chromosome analysis showed a karyotype of 46,X,t(X;9)(q13.1;p24) with an Xq breakpoint distal to the one previously reported. The significance of the cell line, previously unrecognised, for the mapping and eventual cloning of the HED locus is discussed.